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Article

Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.

Journal of endocrinological investigation - 1 Apr 2010

Wasniewska M, Raiola G, Nicoletti A, Galati M C, Messina M F, Mirabelli S, De Luca F

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19636220
DOI: 10.1007/BF03345793

Genes

SHOX

Variants

Provenance

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Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.PMID 19636220Read ↗

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New mutation in the non-gigantic exon of SACS in Japanese siblings.Semantic proximity Read ↗

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.Semantic proximity Read ↗

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